Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia.
Foubert
L
L
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
De Gennes
J L
JL
Benlian
P
P
Truffert
J
J
Miao
L
L
Hayden
M R
MR
D000293:Adolescent; D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008055:Lipids / Q000097:blood; D008071:Lipoprotein Lipase / Q000097:blood / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D017384:Sequence Deletion
D008055:Lipids; D008074:Lipoproteins; D004247:DNA; D008071:Lipoprotein Lipase